"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996784	NM_004463.3(FGD1):c.2735G>A (p.Trp912Ter)	FGD1, TSR2 (W912*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 547365	NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu)	FGD1 (P414L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic